Canonical Allele Identifier: CA348827

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 219643
• ClinVar RCV Id: RCV000204611
• dbSNP Id: rs762664261
• MyVariant Identifiers: chr17:g.78073324A>G (hg19) ; chr17:g.80099525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099525A>G , CM000679.2:g.80099525A>G	GRCh38
NC_000017.10:g.78073324A>G , CM000679.1:g.78073324A>G	GRCh37
NC_000017.9:g.75687919A>G	NCBI36
NG_009822.1:g.2970A>G , LRG_673:g.2970A>G
NG_029761.1:g.67894A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3181-2A>G MANE Select	ENSP00000380679.4:n.3181-2A>G
ENST00000397545.8:c.3181-2A>G	ENSP00000380679.4:n.3181-2A>G
ENST00000574799.5:n.2718-2A>G
NM_017950.3:c.3181-2A>G	NP_060420.2:n.3181-2A>G
XM_011524963.1:c.3091-2A>G	XP_011523265.1:n.3091-2A>G
XM_011524964.1:c.2002-2A>G	XP_011523266.1:n.2002-2A>G
XM_011524963.3:c.3091-2A>G	XP_011523265.1:n.3091-2A>G
XM_011524964.3:c.2002-2A>G	XP_011523266.1:n.2002-2A>G
XM_024450821.1:c.3091-2A>G	XP_024306589.1:n.3091-2A>G
XR_934495.2:n.3299-2A>G
NM_017950.4:c.3181-2A>G MANE Select	NP_060420.2:n.3181-2A>G